Ten-month-old Aidan Deschamps poses for a photo with his parents Amanda Sully and Adam Deschamps in this undated handout photo. Ten-month-old Aidan Deschamps was the first baby in Canada to be diagnosed with spinal muscular atrophy through Ontario’s newborn screening program. The test was added to the program six days before he was born. THE CANADIAN PRESS/HO, Children’s Hospital Eastern Ontario *MANDATORY CREDIT*

Ten-month-old Aidan Deschamps poses for a photo with his parents Amanda Sully and Adam Deschamps in this undated handout photo. Ten-month-old Aidan Deschamps was the first baby in Canada to be diagnosed with spinal muscular atrophy through Ontario’s newborn screening program. The test was added to the program six days before he was born. THE CANADIAN PRESS/HO, Children’s Hospital Eastern Ontario *MANDATORY CREDIT*

First newborn tested for spinal muscular atrophy in Canada hits new milestones

‘If Aidan had been born any earlier or anywhere else our story would be quite different’

Amanda Sully had tried to get pregnant for six years, but she’s grateful that her “miracle” son arrived six days after Ontario became the only province to start a newborn screening test that revealed he had a progressive and irreversible disease.

In January, Aidan Deschamps became the first baby in Canada to be diagnosed with spinal muscular atrophy as part of a new test added to Ontario’s newborn screening program.

Sully said she and her husband, Adam Deschamps, were surprised to get a call from Newborn Screening Ontario advising them that their son, who was 10 days old at the time, had tested positive for the genetic neuromuscular condition, which is the most common cause of death in childhood due to an inherited condition.

“If Aidan had been born any earlier or anywhere else our story would be quite different,” Sully said Wednesday on a Zoom call from the family’s home in Ottawa as Aidan squeezed out of his mom’s arms before his dad took over and tried to keep up with the energetic child.

“As terrible as the news was we were so fortunate to find out early because delaying treatment would have meant long-term irreversible consequences for him,” Sully said.

Sully said she was initially worried that her baby may not be able to roll over if he had the illness, but at 10 months, Aidan is healthy and quite the dancer who loves to throw and chase balls after starting early treatment.

The couple had never heard of spinal muscular atrophy but the morning after the call they were in the office of Dr. Hugh McMillan, a neurologist at Children’s Hospital of Eastern Ontario, a pediatric health and research centre based in Ottawa.

Adam Deschamps said he and his wife held their breath a few days later as their little boy was given an injection of the drug Spinraza just below his spinal cord. The first medication to treat children with spinal muscular atrophy administered through repeated spinal taps was approved by Health Canada in 2017.

McMillan said the drug, which is paid for to varying degrees in different provinces, increases the amount of an essential protein in order to keep motor neurons and motor nerves alive and without it the progression of the disease is irreversible.

He also applied for and was granted use of a gene replacement therapy on compassionate grounds for Aidan when the boy was five weeks.

The one-time intravenous treatment worth millions of dollars is one of two medications that Health Canada is considering for approval, with an announcement expected in the coming weeks, said McMillan, who is also a clinical investigator at the CHEO Research Institute.

It’s too early to tell what the little boy’s future holds but he is meeting all of his developmental milestones, McMillan said.

Dr. Pranesh Chakraborty, chief medical officer of Newborn Screening Ontario, said the province started the program, which tests for 28 conditions, in 1965 and includes all babies born in Ontario and most of Nunavut.

Chakraborty said each province decides on its own whether to screen for certain conditions but the cost for the test that helped Aidan was low because Ontario already had the technology to add it to its existing program.

“I can say from speaking with my colleagues across the country that every province is looking at this and we’re hoping that they’ll be making decisions soon,” he said.

The severity of spinal muscular atrophy depends on when symptoms appear and some children may start showing signs early on when they cannot roll over.

British Columbia’s newborn screening program tests for 24 disorders, a spokeswoman at the Provincial Health Authority said.

The provincial Health Ministry did not respond to requests on whether it would include testing for spinal muscular atrophy as part of its newborn screening program.

Susi Vander Wyk, executive director of Cure SMA Canada, said the organization is working to get all provinces to test for the condition and that Aidan’s story based on Ontario’s lead should compel all jurisdictions to act.

The Canadian Press

Like us on Facebook and follow us on Twitter.

Want to support local journalism? Make a donation here.

Health

Get local stories you won't find anywhere else right to your inbox.
Sign up here

Just Posted

RCMP Emergency Response Team members on Charles Street in Chilliwack on Jan. 15, 2021 after an undisclosed threat was made by a male. The matter was resolved peacefully. (Darcy Loewen photo)
Heavy Chilliwack RCMP presence on Charles Street Friday after ‘disturbing’ phone call

Man who made threats to harm self and others eventually taken into custody unharmed

Two people were in a vehicle that rolled over on Highway No. 1 near Lickman Road. They are now out of the vehicle. (Jenna Hauck/ Chilliwack Progress)
Vehicle rolls over on Highway 1 near Lickman Road in Chilliwack

Two people in SUV at time of collision in westbound lanes

Both eastbound lanes are completely west of exit 135 on Highway 1. (Google maps)
UPDATE: Traffic now getting through following car collision on Highway 1 in Chilliwack

Incident happened shortly just west of exit 135 for Agassiz/Harrison Hot Springs

Carin Bondar announced Nov. 26 that she will be running in the upcoming byelection to replace outgoing school trustee Dan Coulter. (Sarah Sovereign Photography)
Chilliwack school board candidate Carin Bondar calls for vote-by-mail option

As the COVID pandemic continues, Bondar fears voter turnout will be low for next month’s byelection

The route of the pink parade. The Record has blackened out the name of the teen. Facebook photo.
Pink-vehicle parade to be held Sunday in support of transgender teen assaulted in Mission

Teen and family to watch parade drive single file along waterfront at 3 p.m., Jan. 17

Health Minister Adrian Dix and provincial health officer Dr. Bonnie Henry head for the press theatre at the B.C. legislature for an update on COVID-19, Jan. 7, 2021. (B.C. government)
B.C.’s COVID-19 spread steady with 509 new cases Friday

Hospitalized and critical care cases decline, nine deaths

Seasonal influenza vaccine is administered starting each fall in B.C. and around the world. (Langley Advance Times)
After 30,000 tests, influenza virually nowhere to be found in B.C.

COVID-19 precautions have eliminated seasonal infection

Prime Minister Justin Trudeau listens to a question during a news conference outside Rideau cottage in Ottawa, Friday, January 8, 2021. THE CANADIAN PRESS/Adrian Wyld
Trudeau says Canada’s COVID vaccine plan on track despite Pfizer cutting back deliveries

Canadian officials say country will still likely receive four million doses by the end of March

Jobs Minister Ravi Kahlon shared a handwritten note his son received on Jan. 13, 2021. (Ravi Kahlon/Twitter)
Proud dad moment: B.C. minister’s son, 10, receives handwritten note for act of kindness

North Delta MLA took to Twitter to share a letter his son received from a new kid at school

Lilly and Poppy, two cats owned by Kalmar Cat Hotel ownder Donna Goodenough, both have cerebellAr hypoplasia, a genetic neurological condition that affects their ability to control their muscles and bones. Photo by Alistair Taylor – Campbell River Mirror
VIDEO: Wobbly Cats a riot of flailing legs and paws but bundles of love and joy to their owner

Woman urges others to not fear adopting cats with disabilities

Chief public health officer Dr. Theresa Tam provides an update on the COVID-19 pandemic in Ottawa on Friday, Jan. 8, 2021. THE CANADIAN PRESS/Sean Kilpatrick
Canada’s top doctor says to avoid non-essential travel as B.C. explores legal options

Premier John Horgan says he is seeking legal advice on whether it can limit interprovincial travel

Cannabis bought in British Columbia (Ashley Wadhwani/Black Press Media)
Is it time to start thinking about greener ways to package cannabis?

Packaging suppliers are still figuring eco-friendly and affordable packaging options that fit the mandates of Cannabis Regulations

The Delta Hospice Society operates the Harold & Veronica Savage Centre for Supportive Care (pictured) and the Irene Thomas Hospice in Ladner. (The Canadian Press photo)
Fraser Health to evict Delta Hospice Society, open new hospice beds next door

Health authority will serve DHS 30 days’ notice when service agreement expires Feb. 25

Martin Luther King Jr. addresses the crowd during the march on Washington, D.C., in August of 1963. Courtesy photo
Government reinforces importance of anti-racism act on Black Shirt Day

B.C. Ministers say education “a powerful tool” in the fight for equity and equality

Most Read